A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006927



Internal ID72236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157349556..157352535hg38UCSC Ensembl
chr7:157142250..157145229hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg382980
hg192980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482378
Supporting Variants
Samples
Known GenesDNAJB6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006927
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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